Canonical Allele Identifier: CA424075664

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502479A>G , CM000663.2:g.241502479A>G	GRCh38
NC_000001.10:g.241665779A>G , CM000663.1:g.241665779A>G	GRCh37
NC_000001.9:g.239732402A>G	NCBI36
NG_012338.1:g.22276T>C , LRG_504:g.22276T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000143.4:c.1200T>C MANE Select	NP_000134.2:p.Asn400=
ENST00000366560.4:c.1200T>C MANE Select	ENSP00000355518.4:p.Asn400=
NM_000143.3:c.1200T>C , LRG_504t1:c.1200T>C	NP_000134.2:p.Asn400=
ENST00000366560.3:c.1200T>C	ENSP00000355518.3:p.Asn400=
ENST00000493477.2:n.1703T>C
ENST00000682162.1:c.1229T>C	ENSP00000508203.1:n.1229T>C
ENST00000682567.1:n.2748T>C
ENST00000683521.1:c.1200T>C	ENSP00000506864.1:p.Asn400=
ENST00000684161.1:n.2415T>C
ENST00000684483.1:c.*596T>C	ENSP00000507894.1:n.*596T>C
XM_011544132.1:c.972T>C	XP_011542434.1:p.Asn324=
XM_011544132.2:c.972T>C	XP_011542434.1:p.Asn324=